Diseases Commons^™

Speckle-Tracking Echocardiographic Measures Of Right Ventricular Diastolic Function Correlate With Reference Standard Measures Before And After Preload Alteration In Children., Shahryar M. Chowdhury, Suma Goudar, G Hamilton Baker, Carolyn L. Taylor, Girish S. Shirali, Mark K. Friedberg, Andreea Dragulescu, Karen S. Chessa, Luc Mertens

Manuscripts, Articles, Book Chapters and Other Papers

The accuracy of echocardiographic measures of right ventricular (RV) diastolic function has been sparsely studied. Our objective was to evaluate the correlation between echocardiographic and reference standard measures of RV diastolic function derived from micromanometer pressure analysis before and after preload alteration in children. Echocardiograms and micromanometer pressure analyses were prospectively performed before and after fluid bolus in children undergoing right heart catheterization. The isovolumic relaxation time constant (τ) and end-diastolic pressure (EDP) were measured. Conventional and speckle-tracking echocardiographic (STE) parameters of RV systolic and diastolic function were assessed. Normal saline bolus was given to increase RV EDP by 20 …

A Singleton Infant With Bilateral Renal Agenesis And Normal Pulmonary Function., Lovya George, Winston M. Manimtim, Jotishna Sharma

Manuscripts, Articles, Book Chapters and Other Papers

Bilateral renal agenesis leads to anhydramnios and other sequelae including pulmonary hypoplasia. There have been rare case reports of normal pulmonary function in the presence of bilateral renal agenesis in monoamniotic discordant twins, but this has never been reported in a singleton pregnancy. The few reported cases in twins have all been fatal in the neonatal period with no reported cases of survival beyond 2 months. We describe the first case of a singleton infant with bilateral renal agenesis who had normal pulmonary function and did well on peritoneal dialysis for 4 years while awaiting a renal transplant.

Predictors Of Loss To Follow-Up Among Children With Type 2 Diabetes., Ashley Shoemaker, Peiyao Cheng, Robin L. Gal, Craig Kollman, William V. Tamborlane, Georgeanna J. Klingensmith, Mark A. Clements, Tamara S. Hannon, Rubina Heptulla, Joane Less, Jamie Wood, Pediatric Diabetes Consortium

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND/AIMS: Youth with type 2 diabetes (T2D) have poor compliance with medical care. This study aimed to determine which demographic and clinical factors differ between youth with T2D who receive care in a pediatric diabetes center versus youth lost to follow-up for >18 months.

METHODS: Data were analyzed from 496 subjects in the Pe-diatric Diabetes Consortium registry. Enrollment variables were selected a priori and analyzed with univariable and multivariable logistic regression models.

RESULTS: After a median of 1.3 years from enrollment, 55% of patients were lost to follow-up. The final model included age, race/ethnicity, parent education, and estimated distance to …

Bleeding Meckel's Diverticulum In Children: The Diagnostic Value Of Double-Balloon Enteroscopy., Lan-Lan Geng, Pei-Yu Chen, Qiang Wu, Hui-Wen Li, Ding-You Li, Min Yang, Si-Tang Gong

Manuscripts, Articles, Book Chapters and Other Papers

Background. Meckel's diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract. The purpose of this study was to evaluate the diagnostic value and safety of double-balloon enteroscopy (DBE) for bleeding MD in children. Methods. We included consecutive children who were highly suspected of MD between 2012 and 2013. All patients underwent Meckel's scan. DBE was performed for patient with negative Meckel's scan. An exploratory laparoscopy was performed in children with positive Meckel's scan or DBE. Results. 42 patients met the inclusion criteria. 40 patients were confirmed to have MD by exploratory laparoscopy. Meckel's scan …

Life-Threatening Hypercalcemia During Prodrome Of Pneumocystis Jiroveci Pneumonia In An Immunocompetent Infant, Judith Sebestyen Vansickle, Tarak Srivastava, Uri S. Alon

Manuscripts, Articles, Book Chapters and Other Papers

Severe hypercalcemia in infants is usually attributed to genetic etiologies and less commonly to acquired ones. An 8-week-old girl presented with failure to thrive, mild respiratory distress, and life-threatening hypercalcemia (23.5 mg/dL). Serum 1,25(OH)2-D) level was elevated and parathyroid hormone undetectable. Evaluation for genetic mutations and malignant etiologies of hypercalcemia was negative. Treatment with intravenous hydration, loop diuretic, and calcitonin failed to correct the hypercalcemia, which was subsequently controlled with bisphosphonate therapy. Due to progressive respiratory deterioration, a bronchopulmonary lavage was done on day 17 of her hospitalization disclosing Pneumocystis jiroveci infection. The subsequent immunological investigation showed no abnormalities. She …

Adherence To Insulin Pump Behaviors In Young Children With Type 1 Diabetes Mellitus., Susana R. Patton, Kimberly A. Driscoll, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Parents of young children are responsible for daily type 1 diabetes (T1DM) cares including insulin bolusing. For optimal insulin pump management, parents should enter a blood glucose result (SMBG) and a carbohydrate estimate (if food will be consumed) into the bolus advisor in their child's pump to assist in delivering the recommended insulin bolus. Previously, pump adherence behaviors were described in adolescents; we describe these behaviors in a sample of young children.

METHODS: Pump data covering between 14-30 consecutive days were obtained for 116 children. Assessed adherence to essential pump adherence behaviors (eg, SMBG, carbohydrate entry, and insulin use) …

Pediatric Ovarian Growing Teratoma Syndrome., Rebecca M. Rentea, Aaron Varghese, Atif Ahmed, Alexander Kats, Michelle Manalang, Tazim Dowlut-Mcelroy, Richard J. Hendrickson

Manuscripts, Articles, Book Chapters and Other Papers

Ovarian immature teratoma is a germ cell tumor that comprises less than 1% of ovarian cancers and is treated with surgical debulking and chemotherapy depending on stage. Growing teratoma syndrome (GTS) is the phenomenon of the growth of mature teratoma elements with normal tumor markers during or following chemotherapy for treatment of a malignant germ cell tumor. These tumors are associated with significant morbidity and mortality due to invasive and compressive growth as well as potential for malignant transformation. Current treatment modality is surgical resection. We discuss a 12-year-old female who presented following resection of a pure ovarian immature teratoma …

Health-Related Quality Of Life (Hr-Qol) And Chronic Health Conditions In Survivors Of Childhood Acute Myeloid Leukemia (Aml) With Down Syndrome (Ds): A Report From The Children's Oncology Group., Kris Ann P. Schultz, Lu Chen, Alicia Kunin-Batson, Zhengjia Chen, William G. Woods, A S. Gamis, Toana Kawashima, Kevin C. Oeffinger, H Stacy Stacy Nicholson, Joseph P. Neglia

Manuscripts, Articles, Book Chapters and Other Papers

Survival rates for children with Down syndrome (DS) and acute myeloid leukemia (AML) are high; however, little is known regarding the health-related quality of life (HR-QOL) of these survivors. Individuals who survived ≥5 years following diagnosis of childhood AML were invited to complete parent or patient-report surveys measuring HR-QOL and chronic health conditions. In total, 26 individuals with DS had a median age at diagnosis of 1.8 years (range, 0.77 to 10.9 y) and median age at interview of 15 years (range, 8.3 to 27.6 y). Participants with DS and AML were compared with AML survivors without DS whose caregiver …

Yap And The Hippo Pathway In Pediatric Cancer., Atif Ahmed, Abdalla D. Mohamed, Melissa Gener, Weijie Li, Eugenio Taboada

Manuscripts, Articles, Book Chapters and Other Papers

The Hippo pathway is an important signaling pathway that controls cell proliferation and apoptosis. It is evolutionarily conserved in mammals and is stimulated by cell-cell contact, inhibiting cell proliferation in response to increased cell density. During early embryonic development, the Hippo signaling pathway regulates organ development and size, and its functions result in the coordinated balance between proliferation, apoptosis, and differentiation. Its principal effectors, YAP and TAZ, regulate signaling by the embryonic stem cells and determine cell fate and histogenesis. Dysfunction of this pathway contributes to cancer development in adults and children. Emerging studies have shed light on the upregulation …

Appendectomy Versus Non-Operative Treatment For Acute Uncomplicated Appendicitis In Children: Study Protocol For A Multicentre, Open-Label, Non-Inferiority, Randomised Controlled Trial., Nigel J. Hall, Simon Eaton, Olivier Abbo, Alexis P. Arnaud, Marianne Beaudin, Mary Brindle, Andreana Bütter, Dafydd Davies, Tim Jancelewicz, Kathy Johnson, Richard Keijzer, Eveline Lapidus-Krol, Martin Offringa, Nelson Piché, Risto Rintala, Erik Skarsgard, Jan F. Svensson, Wendy J. Ungar, Tomas Wester, Andrew R. Willan, Augusto Zani, Shawn D. St Peter, Agostino Pierro

Manuscripts, Articles, Book Chapters and Other Papers

Background: Appendectomy is considered the gold standard treatment for acute appendicitis. Recently the need for surgery has been challenged in both adults and children. In children there is growing clinician, patient and parental interest in non-operative treatment of acute appendicitis with antibiotics as opposed to surgery. To date no multicentre randomised controlled trials that are appropriately powered to determine efficacy of non-operative treatment (antibiotics) for acute appendicitis in children compared with surgery (appendectomy) have been performed.

Methods: Multicentre, international, randomised controlled trial with a non-inferiority design. Children (age 5-16 years) with a clinical and/or radiological diagnosis of acute uncomplicated appendicitis …

Relationship Between Hospital Procedure Volume And Complications Following Congenital Cardiac Catheterization: A Report From The Improving Pediatric And Adult Congenital Treatment (Impact) Registry., Natalie Jayaram, John A. Spertus, Michael L. O'Byrne, Paul S. Chan, Kevin F. Kennedy, Lisa Bergersen, Andrew C. Glatz

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The association between institutional volume and outcomes has been demonstrated for cardiac catheterization among adults, but less is known about this relationship for patients with congenital heart disease (CHD) undergoing cardiac catheterization.

METHODS: Within the IMPACT registry, we identified all catheterizations between January 2011 and March 2015. Hierarchical logistic regression, adjusted for patient and procedural characteristics, was used to determine the association between annual catheterization lab volume and occurrence of a major adverse event (MAE).

RESULTS: Of 56,453 catheterizations at 77 hospitals, an MAE occurred in 1014 (1.8%) of cases. In unadjusted analysis, a MAE occurred in 2.8% (123/4460) …

High Levels Of Iron Supplementation Prevents Neural Tube Defects In The Fpn1(Ffe) Mouse Model., Bethany A Stokes, Julia A Sabatino, Irene E. Zohn

Pediatrics Faculty Publications

BACKGROUND: Periconception maternal nutrition and folate in particular are important factors influencing the incidence of neural tube defects (NTDs). Many but not all NTDs are prevented by folic acid supplementation and there is a pressing need for additional strategies to prevent these birth defects. Other micronutrients such as iron are potential candidates, yet a clear role for iron deficiency in contributing to NTDs is lacking. Our previous studies with the flatiron (ffe) mouse model of Ferroportin1 (Fpn1) deficiency suggest that iron is required for neural tube closure and forebrain development raising the possibility that iron supplementation could prevent NTDs.

METHODS: …

Late Onset Of Pulmonary Hypertension And Sepsis In Omphalocele Infants, Joanne E. Baerg, Arul Thirumoorthi, Whitney Carlton, Shelly Haug, Andrew O. Hopper, Donna Goff, Sandhya Ramlogan, Shawn D. St Peter

Manuscripts, Articles, Book Chapters and Other Papers

A subset of omphalocele infants has respiratory decompensation after the first week of life and PHN is diagnosed. Infection may initiate decompensation. In some, PHN is distinct from pulmonary hypoplasia as they oxygenate on room air for some time after birth. With aggressive treatment and follow-up, PHN can resolve. The late diagnosis of PHN in infants with omphalocele is previously unappreciated and deserves further study.

Indoor Tobacco Legislation Is Associated With Fewer Emergency Department Visits For Asthma Exacerbation In Children., Christina E. Ciaccio, Tami Gurley-Calvez, Theresa I. Shireman

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: During the past 3 decades, numerous cities and states have adopted laws that ban smoking in public indoor spaces. The rationale for these policies has been to protect nonsmokers from the adverse health effects of secondhand smoke.

OBJECTIVE: To determine whether the implementation of indoor smoking legislation is associated with a decrease in emergency department visits for asthma in children.

METHODS: This retrospective analysis used a natural experiment to estimate the impact of clean indoor air legislation on the rate of emergency department admissions for asthma exacerbation in children. Data were obtained from the Pediatric Health Information System. A …

Should Neonatologists Give Opinions Withdrawing Life-Sustaining Treatment?, J S. Blumenthal-Barby, Laura Loftis, Christy L. Cummings, William Meadow, Monica Lemmon, Peter A. Ubel, Laurence Mccullough, Emily Rao, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

An infant has a massive intracranial hemorrhage. She is neurologically devastated and ventilator-dependent. The prognosis for pulmonary or neurologic recovery is bleak. The physicians and parents face a choice: withdraw the ventilator and allow her to die or perform a tracheotomy? The parents cling to hope for recovery. The physician must decide how blunt to be in communicating his own opinions and recommendations. Should the physician try to give just the facts? Or should he also make a recommendation based on his own values? In this article, experts in neonatology, decision-making, and bioethics discuss this situation and the choice that …

Intravenous Versus Oral Antibiotics For Postdischarge Treatment Of Complicated Pneumonia., Samir S. Shah, Rajendu Srivastava, Susan Wu, Jeffrey D. Colvin, Derek J. Williams, Shawn J. Rangel, Waheeda Samady, Suchitra Rao, Christopher Miller, Cynthia Cross, Caitlin Clohessy, Matthew Hall, Russell Localio, Matthew Bryan, Gong Wu, Ron Keren, Pediatric Research In Inpatient Settings Network

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND AND OBJECTIVES: Postdischarge treatment of complicated pneumonia includes antibiotics administered intravenously via a peripherally inserted central venous catheter (PICC) or orally. Antibiotics administered via PICC, although effective, may result in serious complications. We compared the effectiveness and treatment-related complications of postdischarge antibiotics delivered by these 2 routes.

METHODS: This multicenter retrospective cohort study included children ≥2 months andadministration, classified as PICC or oral. The primary outcome was treatment failure. Secondary outcomes included PICC complications, adverse drug reactions, other related revisits, and a composite of all 4 outcomes, termed "all related revisits."

RESULTS: Among 2123 children, 281 (13.2%) received antibiotics …

Mir-155 Expression And Correlation With Clinical Outcome In Pediatric Aml: A Report From Children's Oncology Group., Ranjani Ramamurthy, Maya Hughes, Valerie Morris, Hamid Bolouri, Robert B. Gerbing, Yi-Cheng Wang, Michael R. Loken, Susana C. Raimondi, Betsy A. Hirsch, A S. Gamis, Vivian G. Oehler, Todd A. Alonzo, Soheil Meshinchi

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Aberrant expression of microRNA-155 (miR-155) has been implicated in acute myeloid leukemia (AML) and associated with clinical outcome.

PROCEDURE: We evaluated miR-155 expression in 198 children with normal karyotype AML (NK-AML) enrolled in Children's Oncology Group (COG) AML trial AAML0531 and correlated miR-155 expression levels with disease characteristics and clinical outcome. Patients were divided into quartiles (Q1-Q4) based on miR-155 expression level, and disease characteristics were then evaluated and correlated with miR-155 expression.

RESULTS: MiR-155 expression varied over 4-log10-fold range relative to its expression in normal marrow with a median expression level of 0.825 (range 0.043-25.630) for the entire …

Cataract Surgery In Children From Birth To Less Than 13 Years Of Age: Baseline Characteristics Of The Cohort., Michael X. Repka, Trevano W. Dean, Elizabeth L. Lazar, Kimberly G. Yen, Phoebe D. Lenhart, Sharon F. Freedman, Denise Hug, Bahram Rahmani, Serena X. Wang, Raymond T. Kraker, David K. Wallace, Pediatric Eye Disease Investigator Group

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To describe baseline characteristics, initial postoperative refractive errors, operative complications, and magnitude of the intraocular lens (IOL) prediction error for refractive outcome in children undergoing lensectomy largely in North America.

DESIGN: Prospective registry study of children from birth to enrollment.

PARTICIPANTS: Total of 1266 eyes of 994 children; 49% female and 59% white.

METHODS: Measurement of refractive error, axial length, and complete ophthalmic examination.

MAIN OUTCOME MEASURES: Eye and systemic associated conditions, IOL style, refractive error, pseudophakic refraction prediction error, operative and perioperative complications.

RESULTS: Mean age at first eligible lens surgery was 4.2 years; 337 (34%) were(59%). Additional …

Family Factors That Characterize Adolescents With Severe Obesity And Their Role In Weight Loss Surgery Outcomes., Meg H. Zeller, Sanita Hunsaker, Carmen Mikhail, Jennifer Reiter-Purtill, Mary Beth Mccullough, Beth Garland, Heather Austin, Gia Washington, Amy Baughcum, Dana Rofey, Kevin Smith, Teenview Study Group And In Collaboration With The Teen-Labs Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Objective: To comprehensively assess family characteristics of adolescents with severe obesity and whether family factors impact weight loss outcomes following weight loss surgery (WLS).

Methods: Multisite prospective data from 138 adolescents undergoing WLS and primary caregivers (adolescent: Mage = 16.9; MBMI = 51.5 kg/m2 ; caregiver: Mage = 44.5; 93% female) and 83 nonsurgical comparators (NSComp: adolescent: Mage = 16.1; MBMI = 46.9 kg/m2 ; caregiver: Mage = 43.9; 94% female) were collected using standardized measures at presurgery/baseline and at 1 and 2 years.

Results: The majority (77.3%) of caregivers had obesity, with rates of caregiver WLS significantly higher in …

A 9-Year-Old Boy With A Chest Mass And Eosinophilia., Laura E. Norton, Sean N. Curtis, Jennifer L. Goldman

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Erratum To: High Expression Of Myocyte Enhancer Factor 2c (Mef2c) Is Associated With Adverse-Risk Features And Poor Outcome In Pediatric Acute Myeloid Leukemia: A Report From The Children's Oncology Group., George S. Laszlo, Todd A. Alonzo, Chelsea J. Gudgeon, Kimberly H. Harrington, Alex Kentsis, Robert B. Gerbing, Yi-Cheng Wang, Rhonda E. Ries, Susana C. Raimondi, Betsy A. Hirsch, A S. Gamis, Soheil Meshinchi, Roland B. Walter

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

A Trial Of Unrelated Donor Marrow Transplantation For Children With Severe Sickle Cell Disease., Shalini Shenoy, Mary Eapen, Julie A. Panepinto, Brent R. Logan, Juan Wu, Allistair Abraham, Joel Brochstein, Sonali Chaudhury, Kamar Godder, Ann E. Haight, Kimberly A. Kasow, Kathryn Leung, Martin Andreansky, Monica Bhatia, Jignesh Dalal, Hilary Haines, Jennifer Jaroscak, Hillard M. Lazarus, John E. Levine, Lakshmanan Krishnamurti, David Margolis, Gail C. Megason, Lolie C. Yu, Michael A. Pulsipher, Iris Gersten, Nancy Difronzo, Mary M. Horowitz, Mark C. Walters, Naynesh Kamani

Manuscripts, Articles, Book Chapters and Other Papers

Children with sickle cell disease experience organ damage, impaired quality of life, and premature mortality. Allogeneic bone marrow transplant from an HLA-matched sibling can halt disease progression but is limited by donor availability. A Blood and Marrow Transplant Clinical Trials Network (BMT CTN) phase 2 trial conducted from 2008 to 2014 enrolled 30 children aged 4 to 19 years; 29 were eligible for evaluation. The primary objective was 1-year event-free survival (EFS) after HLA allele-matched (at HLA-A, -B, -C, and -DRB1 loci) unrelated donor transplant. The conditioning regimen included alemtuzumab, fludarabine, and melphalan. Graft-versus-host disease (GVHD) prophylaxis included calcineurin inhibitor, …

Functional Validation Of Novel Compound Heterozygous Variants In B3gat3 Resulting In Severe Osteopenia And Fractures: Expanding The Disease Phenotype., Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret Gibson, Sarah E. Soden, Neil A. Miller, Isabelle Thiffault, Carol J. Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily G. Farrow

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly being recognized as a cause of human disease. Proteoglycans are an essential component of the extracellular matrix. Defects in the enzymatic process of proteoglycan synthesis broadly occur due to the incorrect addition of side chains. Previously, homozygous missense variants within the B3GAT3 gene encoding beta 1,3 glucuronyltransferase 3(GlcAT-I) responsible for the biosynthesis of glycosaminoglycans have been described in 7 individuals.

CASE PRESENTATION: In this study, a 4-year-old patient with a severe phenotype …

Epidemiology And Impact Of Campylobacter Infection In Children In 8 Low-Resource Settings: Results From The Mal-Ed Study, Shahida Qureshi, Aneeta Hotwani, Sadia Shakoor, (Mal-Ed) Network Investigators, Imran Ahmed, Didar Alam, Syed Asad Ali, Zulfiqar Ahmed Bhutta, Muneera Rasheed, Sajid Bashir Soofi, Ali Turab, Anita K. M. Zaidi

Department of Paediatrics and Child Health

Background: Enteropathogen infections have been associated with enteric dysfunction and impaired growth in children in low-resource settings. In a multisite birth cohort study (MAL-ED), we describe the epidemiology and impact of Campylobacter infection in the first 2 years of life.
Methods: Children were actively followed up until 24 months of age. Diarrheal and nondiarrheal stool samples were collected and tested by enzyme immunoassay for Campylobacter Stool and blood samples were assayed for markers of intestinal permeability and inflammation.
Results: A total of 1892 children had 7601 diarrheal and 26 267 nondiarrheal stool samples tested for Campylobacter We describe a high …

Photothermal Therapy Improves The Efficacy Of A Mek Inhibitor In Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors., Elizabeth E. Sweeney, Rachel A. Burga, Chaoyang Li, Yuan Zhu, Rohan Fernandes

Pediatrics Faculty Publications

Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive tumors with low survival rates and the leading cause of death in neurofibromatosis type 1 (NF1) patients under 40 years old. Surgical resection is the standard of care for MPNSTs, but is often incomplete and can generate loss of function, necessitating the development of novel treatment methods for this patient population. Here, we describe a novel combination therapy comprising MEK inhibition and nanoparticle-based photothermal therapy (PTT) for MPNSTs. MEK inhibitors block activity driven by Ras, an oncogene constitutively activated in NF1-associated MPNSTs, while PTT serves as a minimally invasive method to ablate …

Cardiovascular Disease Risk Factors And Left Ventricular Hypertrophy In Girls And Boys With Ckd., Rebecca L. Ruebner, Derek Ng, Mark Mitsnefes, Bethany J. Foster, Kevin Meyers, Bradley A. Warady, Susan L. Furth

Manuscripts, Articles, Book Chapters and Other Papers

Background and objectives: Prior studies suggested that women with CKD have higher risk for cardiovascular disease (CVD) and mortality than men, although putative mechanisms for this higher risk have not been identified. We assessed sex differences in (1) CVD risk factors and left ventricular hypertrophy (LVH), and (2) the relationship of left ventricular mass (LVM) with different measures of body size in children with CKD.

Design, setting, participants, and measurements: The study population comprised 681 children with CKD from the Chronic Kidney Disease in Children cohort, contributing 1330 visits. CVD risk factors were compared cross-sectionally by sex. LVH was defined …

Novel Mutation Of Interferon-Γ Receptor 1 Gene Presenting As Early Life Mycobacterial Bronchial Disease, Maria J. Gutierrez, Neelu Kaira, Alexandra Horwitz, Gustavo Nino

Pediatrics Faculty Publications

Mendelian susceptibility to mycobacterial diseases (MSMD) are a spectrum of inherited disorders characterized by localized or disseminated infections caused by atypical mycobacteria. Interferon-γ receptor 1 (IFNGR1) deficiency was the first identified genetic disorder recognized as MSMD. Mutations in the genes encoding IFNGR1 can be recessive or dominant and cause complete or partial receptor deficiency. We present the case of a 2½-year-old boy with a history of recurrent wheezing, diagnosed with endobronchial mycobacterial infection. Immunological workup revealed a homozygous nonsense mutation in the IFNGR1 gene, a novel mutation predicted in silico to cause complete IFNGR1 deficiency. This case demonstrates that ( …

Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From The Children's Oncology Group., Robert B. Gerbing, Todd A. Alonzo, Lillian Sung, Alan S. Gamis, Soheil Meshinchi, Sharon E. Plon, Alison A. Bertuch, Maria M. Gramatges

Manuscripts, Articles, Book Chapters and Other Papers

Purpose Suboptimal outcomes for children with acute myeloid leukemia (AML) necessitate maximally intensive therapy. Consequently, serious adverse events, such as prolonged periods of profound myelosuppression, contribute to AML treatment-related mortality. Telomeres, the repetitive DNA-protein structures at chromosome ends, influence cellular replicative capacity in that critically short telomeres can induce cell senescence or apoptosis. Our objective was to evaluate the impact of telomere length on duration of post-therapy neutropenia in a pediatric AML cohort. Patients and Methods Patients were diagnosed with de novo AML, enrolled in Children's Oncology Group study AAML0531, and included those with (n = 53) and without (n …

Ibd Live Case Series-Case 6., Dhyan Rajan, Julia B. Greer, Miguel D. Regueiro, Leonard Baidoo, David G. Binion, Hans H. Herfarth, Corey A. Siegel, Douglas J. Hartman, Francis A. Farraye, Ioannis E. Koutroubakis, Myron H. Brand, Emmanuelle D. Williams, Alka Goyal, Raymond K. Cross

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

More Than Medication: Perinatal Palliative Care., Brian S. Carter

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.